Canonical Allele Identifier: CA464595827
Gene: GALT HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.34647673T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647676T>C , CM000671.2:g.34647676T>C GRCh38
NC_000009.11:g.34647673T>C , CM000671.1:g.34647673T>C GRCh37
NC_000009.10:g.34637673T>C NCBI36
NG_009029.1:g.6039T>C
NG_028966.1:g.492T>C
NG_009029.2:g.6088T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.328+109T>C ENSP00000509954.1:n.328+109T>C
ENST00000378842.8:c.348T>C MANE Select ENSP00000368119.4:p.Leu116=
ENST00000378842.7:c.348T>C ENSP00000368119.3:p.Leu116=
ENST00000450095.6:c.51-156T>C ENSP00000401956.2:n.51-156T>C
ENST00000465543.6:n.687T>C
ENST00000472111.5:n.478T>C
ENST00000473506.6:c.299T>C ENSP00000432839.2:p.Phe100Ser
ENST00000473529.5:n.484T>C
ENST00000485531.1:n.663T>C
ENST00000487381.5:n.607T>C
ENST00000489643.6:n.282+418T>C
ENST00000554085.5:c.*92T>C ENSP00000450419.1:n.*92T>C
ENST00000554139.5:n.401T>C
ENST00000554330.5:n.385T>C
ENST00000554550.5:c.253-156T>C ENSP00000451435.1:n.253-156T>C
ENST00000554638.5:n.694T>C
ENST00000554897.5:c.253-156T>C ENSP00000450942.1:n.253-156T>C
ENST00000554944.5:n.418T>C
ENST00000555020.5:n.378T>C
ENST00000555086.5:n.352T>C
ENST00000555214.5:n.262-372T>C
ENST00000556157.1:n.472T>C
ENST00000556244.1:c.335T>C
ENST00000556278.1:c.252+418T>C ENSP00000451792.1:n.252+418T>C
ENST00000556403.5:n.450T>C
ENST00000556494.5:n.469T>C
ENST00000557541.5:n.492T>C
ENST00000557706.5:n.784T>C
NM_000155.3:c.348T>C NP_000146.2:p.Leu116=
NM_001258332.1:c.51-156T>C NP_001245261.1:n.51-156T>C
NM_000155.4:c.348T>C MANE Select NP_000146.2:p.Leu116=
NM_001258332.2:c.51-156T>C NP_001245261.1:n.51-156T>C